Details of Disease | DrugMAP

General Information of Disease (ID: DISNCL02)

Disease Name	Severe combined immunodeficiency due to LAT deficiency
Synonyms	IMD52; immunodeficiency 52; SCID due to LAT deficiency
Disease Hierarchy	DISFRKM4: T-B+ severe combined immunodeficiency DISNCL02: Severe combined immunodeficiency due to LAT deficiency
Disease Identifiers	MONDO ID MONDO_0044721 UMLS CUI C4479588 OMIM ID 617514 MedGen ID 1384124 Orphanet ID 504523 SNOMED CT ID 1179284005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LAT	OTZC1XZ1	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.